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dbVar

Database of genomic structural variation

nsv3882857

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:260,781

Description:GRCh37/hg19 4q22.1(chr4:91406782-91667562)x1 AND not provided

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 768 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):90,485,631-90,746,411

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3882857	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	90,485,631	90,746,411
nsv3882857	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	91,406,782	91,667,562

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15165315	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000743802.2, VCV000607166.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15165315	Remapped	Perfect	NC_000004.12:g.(?_ 90485631)_(9074641 1_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	90,485,631	90,746,411
nssv15165315	Submitted genomic		NC_000004.11:g.(?_ 91406782)_(9166756 2_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	91,406,782	91,667,562

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15165315	GRCh37: NC_000004.11:g.(?_91406782)_(91667562_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000743802.2, VCV000607166.2	1

No genotype data were submitted for this variant

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